Variant report

Variant	rs6951116
Chromosome Location	chr7:48125854-48125855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:48125547-48125887	HCT-116	colon:	n/a	n/a
2	JUND	chr7:48124071-48125859	SK-N-SH	brain:	n/a	chr7:48124679-48124687 chr7:48124759-48124766 chr7:48124680-48124687 chr7:48124758-48124766 chr7:48124758-48124766 chr7:48124677-48124689 chr7:48124756-48124767 chr7:48124677-48124688 chr7:48124679-48124687
3	POLR2A	chr7:48124503-48125924	GM19099	blood:	n/a	n/a
4	MAFK	chr7:48125718-48125971	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr7:48124223-48125859	Hela-S3	cervix:	n/a	n/a
6	MAFK	chr7:48125690-48125951	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:48124293-48135407	IMR90	lung:	n/a	n/a
8	MAFK	chr7:48125675-48125953	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:48123072..48126453-chr7:48126684..48130333,8	K562	blood:
2	chr7:48015848..48019189-chr7:48124673..48126576,3	MCF-7	breast:
3	chr7:48123914..48126284-chr7:48127753..48130112,2	MCF-7	breast:

Variant related genes	Relation type
UPP1	TF binding region
ENSG00000183696	Chromatin interaction
ENSG00000136273	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11975785	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17132070	1.00[EUR][1000 genomes]
rs1879832	1.00[EUR][1000 genomes]
rs1915970	1.00[MEX][hapmap]
rs2056472	1.00[EUR][1000 genomes]
rs2230761	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2348664	1.00[EUR][1000 genomes]
rs58352699	1.00[EUR][1000 genomes]
rs58725335	1.00[EUR][1000 genomes]
rs6947955	1.00[EUR][1000 genomes]
rs73337874	1.00[EUR][1000 genomes]
rs73337876	1.00[EUR][1000 genomes]
rs73694335	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48111200-48127600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:48122000-48127800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:48122000-48128000	Enhancers	HMEC	breast
4	chr7:48122200-48127600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:48122200-48127800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:48122200-48128000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:48122400-48126400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr7:48122400-48127600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:48122400-48128000	Enhancers	NHLF	lung
10	chr7:48122400-48128200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:48122600-48126600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:48122600-48126800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr7:48122600-48128000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:48122600-48128000	Enhancers	NHDF-Ad	bronchial
15	chr7:48122800-48126600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:48122800-48128000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr7:48122800-48128000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:48123000-48127800	Enhancers	HUVEC	blood vessel
19	chr7:48123200-48126800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:48123200-48127600	Weak transcription	Right Atrium	heart
21	chr7:48123200-48128000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr7:48123400-48127000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:48123400-48127600	Weak transcription	Spleen	Spleen
24	chr7:48123600-48126400	Weak transcription	Primary T cells from cord blood	blood
25	chr7:48123800-48128000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr7:48124000-48127000	Enhancers	Duodenum Mucosa	Duodenum
27	chr7:48124000-48127600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:48124000-48127600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:48124000-48127600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:48124000-48127600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:48124000-48127600	Enhancers	Adipose Nuclei	Adipose
32	chr7:48124000-48127800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr7:48124000-48127800	Enhancers	Fetal Intestine Small	intestine
34	chr7:48124000-48127800	Enhancers	Stomach Mucosa	stomach
35	chr7:48124000-48127800	Enhancers	HSMM	muscle
36	chr7:48124000-48128000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:48124000-48128000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:48124000-48128000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr7:48124000-48128000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:48124000-48128000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:48124000-48128000	Enhancers	Placenta	Placenta
42	chr7:48124200-48126000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr7:48124200-48127600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr7:48124200-48127800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:48124200-48127800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr7:48124200-48127800	Enhancers	Fetal Intestine Large	intestine
47	chr7:48124200-48127800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr7:48124200-48128000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr7:48124400-48126600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr7:48124400-48127400	Enhancers	Small Intestine	intestine

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